1.
J Pediatr
; 146(5): 706-8, 2005 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15870679
RESUMO
Fatty acids play an important role in regulating insulin secretion, but the mechanisms are unclear. We report a case of a novel splice site mutation in the short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) gene associated with hyperinsulinism. This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity.